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Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects

By Carla Marini, Katia Hardies, Tiziana Pisano, Patrick May, Sarah Weckhuysen, Elena Cellini, Arvid Suls, Davide Mei, Rudi Balling, Peter De Jonghe, Ingo Helbig, Domenico Garozzo, EuroEPINOMICS consortium AR working group and Renzo Guerrini


We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozy- gous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability. General examination showed distal arthrog- ryposis predominant in the hands in both siblings and severe left dorso-lumbar convex scoliosis in one. WGS of the siblings-parents quartet identified novel compound heterozygous mutations in SLC35A3 in both children. SLC35A3 encodes the major Golgi uridine diphosphate N-acetylglucosamine transporter. With this study, we add SLC35A3 to the gene list of epilepsies. Neurological symptoms and skeletal abnormalities might result from impaired glycosylation of proteins involved in normal development and function of the central nervous system and skeletal apparatus

Topics: Epilepsy, SLC35A3, Genetics, Life sciences :: Genetics & genetic processes [F10], Sciences du vivant :: Génétique & processus génétiques [F10], Human health sciences :: Neurology [D14], Sciences de la santé humaine :: Neurologie [D14]
Publisher: 'Wiley'
Year: 2017
DOI identifier: 10.1002/ajmg.a.38112
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